Alpha-1 Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency-associated Lung Disease?^1,2,3

Alpha-1 Antitrypsin Deficiency (AATD) is a rare, genetic condition that results in a deficiency of alpha-1 antitrypsin, a protein that protects the lungs and liver against environmental damage, as well as against attack by neutrophil elastase, a key enzyme that the body releases during inflammation. Without this protein, or with defective proteins, inflammation has both acute and long-term effects.

People living with Alpha-1 Antitrypsin Deficiency-associated Lung Disease (AATD-LD) experience gradual, irreversible loss of lung function due to the permanent destruction of the lungs’ supportive elastic tissues. This can result in early onset emphysema or chronic obstructive pulmonary disease (COPD), even in the absence of smoking. This often starts in early adulthood.

AATD-LD treatment approaches include avoidance of cigarette smoke, use of inhalers to help control symptoms, and in some cases intravenous infusion of alpha-1 antitrypsin protein. These do not halt disease progression, and AATD-LD can be life-threatening and lead to the need for a lung transplant. However, a lung transplant does not remove the underlying cause of the disease, and the replacement lungs continue to experience progressive damage and consequent loss of function. 

This progressive lung disease affects an estimated 75,000 people in North America and 110,000 in Europe.⁴

You can find out more about the realities of living with AATD-LD by reading our Rare Disease Day blog.